MTM1 mutations are associated with severe myopathic phenotypes and more than 300 mutations have been identified. Genotype-phenotype analyses are helpful to understand disease mechanisms. To report a novel mutation in a patient with X-linked myotubular myopathy (XLMTM). The patient underwent whole exome sequencing (WES), using the Nextera® capture kit and NGS performed on Ilumina HiSeq®. A 6-month-old boy was the second child of young, nonconsanguineous and healthy parents. In the 7th month of pregnancy, polyhydramnios was detected, but the mother denied reduced fetal movements.
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